Results 181 to 190 of about 1,181,122 (400)

Self-Face Recognition Begins to Share Active Region in Right Inferior Parietal Lobule with Proprioceptive Illusion During Adolescence [PDF]

open access: bronze, 2018
Tomoyo Morita   +8 more
openalex   +1 more source

Molecular Profiling of Genes Associated With Methylphenidate Pathway Therapy and Discovery of New Variants in Amazonian Amerindian Populations

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In Attention Deficit Hyperactivity Disorder (ADHD), methylphenidate is one of the most widely used drugs, in which patient response significantly impacts prognosis. This study aimed to characterize the molecular profile of 10 genes associated with methylphenidate therapy.
Aline Pasquini Santos   +14 more
wiley   +1 more source

Association of Polygenic Liability for Alcohol Dependence and EEG Connectivity in Adolescence and Young Adulthood [PDF]

open access: gold, 2019
Jacquelyn L. Meyers   +21 more
openalex   +1 more source

Depressive Symptom Trajectories Across Adolescence and Adulthood Among Individuals With Asthma [PDF]

open access: green, 2023
Nicole M. Ruppe   +5 more
openalex   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Novel co-occurrence of SLC26A4 and KCTD7 variants in a pediatric patient with syndromic hearing loss and myoclonic epilepsy

open access: yesEgyptian Journal of Medical Human Genetics
Background Syndromic hearing loss and progressive myoclonic epilepsy are distinct genetic disorders with well-established genes implicated. SLC26A4 is commonly associated with hearing loss, including Pendred syndrome, while KCTD7 is linked to PME ...
Fakhreddin Shariatmadari   +7 more
doaj   +1 more source

Association between Peer Victimization (PV) in Childhood/Adolescence and Personality Disorders among Adult Patients [PDF]

open access: gold, 2022
Rafael Fernández Martínez   +8 more
openalex   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

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